Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00677:Nol4'

12404

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nol4

Ensembl Gene

ENSMUSG00000041923

Gene Name

nucleolar protein 4

Synonyms

1700013J13Rik, LOC383304, 4930568N03Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.452) question?

Stock #

IGL00677

Quality Score

Status

Chromosome

Chromosomal Location

22826238-23174710 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 23054924 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 96 (P96T)

Ref Sequence

ENSEMBL: ENSMUSP00000080150 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081423] [ENSMUST00000097651] [ENSMUST00000164186] [ENSMUST00000164893] [ENSMUST00000165323]

AlphaFold

P60954

Predicted Effect

probably damaging
Transcript: ENSMUST00000081423
AA Change: P96T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000080150
Gene: ENSMUSG00000041923
AA Change: P96T

Domain	Start	End	E-Value	Type
low complexity region	139	155	N/A	INTRINSIC
low complexity region	199	210	N/A	INTRINSIC
low complexity region	309	320	N/A	INTRINSIC
low complexity region	487	506	N/A	INTRINSIC
low complexity region	513	523	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000097651
AA Change: P169T

PolyPhen 2 Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000095256
Gene: ENSMUSG00000041923
AA Change: P169T

Domain	Start	End	E-Value	Type
low complexity region	212	228	N/A	INTRINSIC
low complexity region	272	283	N/A	INTRINSIC
low complexity region	382	393	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000097652

Predicted Effect

probably benign
Transcript: ENSMUST00000164186
AA Change: P169T

PolyPhen 2 Score 0.268 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000130950
Gene: ENSMUSG00000041923
AA Change: P169T

Domain	Start	End	E-Value	Type
low complexity region	212	228	N/A	INTRINSIC
low complexity region	272	283	N/A	INTRINSIC
low complexity region	382	393	N/A	INTRINSIC
low complexity region	560	579	N/A	INTRINSIC
low complexity region	586	596	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164893
AA Change: P169T

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000127870
Gene: ENSMUSG00000041923
AA Change: P169T

Domain	Start	End	E-Value	Type
low complexity region	212	228	N/A	INTRINSIC
low complexity region	272	283	N/A	INTRINSIC
low complexity region	382	393	N/A	INTRINSIC
low complexity region	496	515	N/A	INTRINSIC
low complexity region	522	532	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165323
AA Change: P55T

PolyPhen 2 Score 0.374 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000125860
Gene: ENSMUSG00000041923
AA Change: P55T

Domain	Start	End	E-Value	Type
low complexity region	95	108	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 8 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cyb5b	A	G	8: 107,897,048 (GRCm39)	D106G	probably benign	Het
Ecm2	G	A	13: 49,684,794 (GRCm39)	E634K	probably benign	Het
Mgl2	T	C	11: 70,027,932 (GRCm39)	V380A	probably benign	Het
Muc5b	A	T	7: 141,411,631 (GRCm39)	K1526*	probably null	Het
Naip6	G	A	13: 100,452,525 (GRCm39)	R179C	probably benign	Het
Nin	T	A	12: 70,073,634 (GRCm39)	K1173I	probably damaging	Het
Spink11	C	T	18: 44,325,701 (GRCm39)		probably null	Het
Srgap2	A	T	1: 131,284,438 (GRCm39)	M231K	possibly damaging	Het

Other mutations in Nol4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Nol4	APN	18	22,956,469 (GRCm39)	missense	probably benign	0.15
IGL01153:Nol4	APN	18	22,902,850 (GRCm39)	missense	probably damaging	1.00
IGL01400:Nol4	APN	18	22,956,555 (GRCm39)	missense	probably damaging	0.99
IGL02006:Nol4	APN	18	23,054,975 (GRCm39)	missense	probably damaging	1.00
IGL02342:Nol4	APN	18	22,903,926 (GRCm39)	splice site	probably benign
IGL02501:Nol4	APN	18	22,956,398 (GRCm39)	missense	probably damaging	1.00
PIT4378001:Nol4	UTSW	18	23,172,933 (GRCm39)	missense	probably damaging	1.00
R0096:Nol4	UTSW	18	23,054,915 (GRCm39)	missense	possibly damaging	0.95
R0097:Nol4	UTSW	18	22,852,198 (GRCm39)	missense	probably benign	0.23
R0097:Nol4	UTSW	18	22,852,198 (GRCm39)	missense	probably benign	0.23
R1257:Nol4	UTSW	18	22,903,738 (GRCm39)	missense	probably damaging	1.00
R1793:Nol4	UTSW	18	22,902,878 (GRCm39)	missense	probably damaging	1.00
R2101:Nol4	UTSW	18	22,956,466 (GRCm39)	missense	probably damaging	1.00
R2357:Nol4	UTSW	18	23,172,967 (GRCm39)	missense	probably benign	0.01
R2414:Nol4	UTSW	18	22,956,629 (GRCm39)	critical splice acceptor site	probably null
R2427:Nol4	UTSW	18	22,983,755 (GRCm39)	intron	probably benign
R3713:Nol4	UTSW	18	23,172,994 (GRCm39)	missense	probably damaging	1.00
R3734:Nol4	UTSW	18	22,903,921 (GRCm39)	splice site	probably benign
R3803:Nol4	UTSW	18	22,828,012 (GRCm39)	missense	probably damaging	1.00
R4458:Nol4	UTSW	18	22,885,052 (GRCm39)	missense	probably damaging	0.99
R4736:Nol4	UTSW	18	22,852,050 (GRCm39)	missense	probably damaging	1.00
R4774:Nol4	UTSW	18	23,045,683 (GRCm39)	missense	probably damaging	0.96
R4795:Nol4	UTSW	18	23,054,944 (GRCm39)	missense	probably damaging	1.00
R5245:Nol4	UTSW	18	22,828,179 (GRCm39)	makesense	probably null
R5980:Nol4	UTSW	18	23,085,258 (GRCm39)	missense	probably damaging	0.97
R6372:Nol4	UTSW	18	23,171,613 (GRCm39)	critical splice donor site	probably null
R6485:Nol4	UTSW	18	22,903,850 (GRCm39)	missense	probably damaging	1.00
R6614:Nol4	UTSW	18	23,053,913 (GRCm39)	missense	probably damaging	1.00
R6809:Nol4	UTSW	18	23,053,882 (GRCm39)	missense	probably damaging	1.00
R6877:Nol4	UTSW	18	22,852,186 (GRCm39)	missense	probably benign	0.06
R7269:Nol4	UTSW	18	23,172,846 (GRCm39)	missense	probably benign
R7310:Nol4	UTSW	18	22,903,801 (GRCm39)	missense
R7720:Nol4	UTSW	18	23,173,080 (GRCm39)	missense	probably benign	0.16
R7753:Nol4	UTSW	18	23,171,659 (GRCm39)	start codon destroyed	probably benign	0.15
R7897:Nol4	UTSW	18	22,956,400 (GRCm39)	missense
R7974:Nol4	UTSW	18	22,852,082 (GRCm39)	nonsense	probably null
R8297:Nol4	UTSW	18	23,173,069 (GRCm39)	missense	probably damaging	0.99
R8303:Nol4	UTSW	18	23,173,231 (GRCm39)	unclassified	probably benign
R8466:Nol4	UTSW	18	23,171,638 (GRCm39)	missense	probably benign	0.03
R8985:Nol4	UTSW	18	23,085,294 (GRCm39)	missense	probably damaging	1.00
R9064:Nol4	UTSW	18	22,903,850 (GRCm39)	missense
R9296:Nol4	UTSW	18	22,956,388 (GRCm39)	missense
R9442:Nol4	UTSW	18	22,902,899 (GRCm39)	missense	probably damaging	1.00
R9456:Nol4	UTSW	18	23,172,897 (GRCm39)	missense	probably benign	0.41
R9469:Nol4	UTSW	18	23,085,318 (GRCm39)	missense	probably damaging	0.99
R9478:Nol4	UTSW	18	23,053,934 (GRCm39)	missense	probably damaging	1.00
R9708:Nol4	UTSW	18	22,828,053 (GRCm39)	missense	probably damaging	1.00
Z1088:Nol4	UTSW	18	23,054,959 (GRCm39)	missense	probably damaging	1.00
Z1177:Nol4	UTSW	18	22,902,897 (GRCm39)	nonsense	probably null

Posted On

2012-12-06